A case of familial juvenile hyperuricemic nephropathy with novel uromodulin gene mutation, a novel heterozygous missense mutation in Korea

J Korean Med Sci. 2010 Nov;25(11):1680-2. doi: 10.3346/jkms.2010.25.11.1680. Epub 2010 Oct 26.


Familial Juvenile hyperuricemic nephropathy (FJHN, OMIM #162000) is a rare autosomal dominant disorder characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease. In most but not all families with FJHN, genetic studies have revealed mutations in the uromodulin (UMOD) gene located on chromosome 16p11-p13. We here described a novel heterozygous missense mutation (c.1382C>A causing p.Ala461Glu) in an affected 16-year-old male with hyperuricemia, gout and chronic kidney disease. His father was also affected and the UMOD mutation was found to segregate with the disease. There has been only one case report of Korean family with FJHN, which has not been diagnosed by genetic study. This is the first report of genetically diagnosed FJHN in Korea.

Keywords: Hyperuricemia; Mutation; Tamm-Horsfall protein.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Asian People / genetics*
  • Chromosomes, Human, Pair 16
  • Chronic Disease
  • DNA Mutational Analysis
  • Genes, Dominant
  • Heterozygote
  • Humans
  • Hyperuricemia / genetics*
  • Kidney Diseases / genetics
  • Male
  • Mutation, Missense*
  • Pedigree
  • Republic of Korea
  • Uric Acid / blood
  • Uromodulin / genetics*


  • Uromodulin
  • Uric Acid